Logo arc image image
GATACA
  • Pin/Unpin Search
  • Pin/Unpin Details
Status:
Global Actions
Concepts: 0 (0)   Selected: 0 (0
Clear All Selections
 
Search
Text Search Results
Text Search Query:
none
Text Search Options:
none

Guided Help

Text Search Results
GraphTree Minimize or Maximize this Category
 Disease: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
GraphTree Minimize or Maximize this Category
 Anatomy: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
Minimize or Maximize this Category
 Gene: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
GraphTree Minimize or Maximize this Category
 Jax Mouse Phenotype: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
GraphTree Minimize or Maximize this Category
 Human Phenotype: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
GraphTree Minimize or Maximize this Category
 Gene Ontology: Biological Processes: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
GraphTree Minimize or Maximize this Category
 Gene Ontology: Cellular Component: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
GraphTree Minimize or Maximize this Category
 Gene Ontology: Molecular Function: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
Minimize or Maximize this Category
 Pathway: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
GraphTree Minimize or Maximize this Category
 Drug: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
Minimize or Maximize this Category
 Genomic Expression Atlas --
      Microarray Datasets: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
Minimize or Maximize this Category
 PubMed: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
GraphTree Minimize or Maximize this Category
 CoExpression Atlas: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
Minimize or Maximize this Category
 CoExpression: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
Minimize or Maximize this Category
 Interactions: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
Details
Link-It Detail - Disease - Fabry Disease
Debug Stats
  • ### Total Build Time: 64 ms 26.795 KB
  • CONCEPT_NAME gt=13 ms Completed: 13 ms rowSize= 324 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 495 bytes
  • Skipping details on: CONCEPT_SYNONYM gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • Skipping details on: CONCEPT_TEXT gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_SEMANTIC_TYPE gt=1 ms Completed: 1 ms rowSize= 188 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=4 ms Completed: 4 ms rowSize= 996 bytes
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=12 ms Completed: 12 ms rowSize= 6.723 KB
  • CONCEPT_RELATIONSHIPS gt=30 ms Completed: 30 ms rowSize= 13.888 KB
  • CONCEPT_GENES gt=3 ms Completed: 3 ms rowSize= 3.046 KB
  • CONCEPT_XREFS gt=0 Completed: 0 ms rowSize= 1.147 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Fabry Disease C0002986
Definition (1)
A rare X-linked inherited lysosomal storage disorder characterized by deficiency of the enzyme alpha-galactosidase A. It results in the accumulation of glycolipids in the blood vessels and tissues. Signs and symptoms include hypertension, cardiomyopathy, angiokeratomas, neuropathy, hypohidrosis, keratopathy, proteinuria, and renal failure.
Semantic Types (1)
Disease or Syndrome (T047)
Parents (2)
img Sphingolipidoses C0037899
img Genetic Diseases, X-Linked C1138434
Ancestral Roots
RootRoot Plus OneDepthParent
img Nutritional and Metabolic Diseases C0028715img Metabolic Diseases C00255176img Sphingolipidoses C0037899
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501237img Sphingolipidoses C0037899
img Nutritional and Metabolic Diseases C0028715img Metabolic Diseases C00255177img Sphingolipidoses C0037899
img Nervous System Diseases C0027765img Central Nervous System Diseases C00076828img Sphingolipidoses C0037899
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501234img Genetic Diseases, X-Linked C1138434
Relationships (88)

Relation Types:
diso_​to_​anat : 8
diso_​to_​chem : 13
diso_​to_​diso : 61
diso_​to_​phen : 2
diso_​to_​phys : 4


Relationships:
none : 33
associated_​with : 2
entry_​version_​of : 1
inheritance_​type_​of : 1
is_​associated_​anatomic_​site_​of : 2
manifestation_​of : 46
may_​treat : 2
related_​to : 1
Page Size
Current 25
  Page 1 of 4
Prior Page
Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_CHEM261img Alpha-galactosidase C0002268
DISO_to_DISO246img Complication Aspects C1171258
DISO_to_PHEN215img genetic aspects C0017399
DISO_to_DISO183img Complication Aspects C1171258
DISO_to_PHEN181img genetic aspects C0017399
DISO_to_CHEM163img Alpha-galactosidase C0002268
DISO_to_CHEM61img Isoenzyme C0022173
DISO_to_CHEM46img Isoenzyme C0022173
DISO_to_ANAT42img In Blood C0005768
DISO_to_CHEM38img Trihexosylceramides C0041008
DISO_to_PHYS27img Mutation C0026882
DISO_to_DISO26img Hypertrophy, Left Ventricular C0149721
DISO_to_DISO24img Kidney Diseases C0022658
DISO_to_DISO22img Cerebrovascular accident C0038454
DISO_to_DISO22img Kidney Diseases C0022658
DISO_to_ANAT21img In Blood C0005768
DISO_to_DISO21img Kidney Failure, Chronic C0022661
DISO_to_ANAT20img Kidney C0022646
DISO_to_CHEM19img Trihexosylceramides C0041008
DISO_to_DISO19img Cardiomyopathies C0878544
DISO_to_DISO19img Hypertrophy, Left Ventricular C0149721
DISO_to_DISO19img Kidney Failure, Chronic C0022661
DISO_to_DISO18img Cardiomyopathy, Hypertrophic C0007194
DISO_to_PHYS15img Missense Mutation C0599155
DISO_to_ANAT14img Kidney C0022646
Genes (3)

Species:
human : 3
SpeciesGeneGeneIdGene NameEvidence
HumanNAGA4668N-acetylgalactosaminidase, alpha-
img OMIM, Score=1000, UMLKSK CUI: C0002986
HumanGLB12720galactosidase, beta 1
img OMIM, Score=1000, UMLKSK CUI: C0002986
HumanGLA2717galactosidase, alpha
img OMIM, Score=1000, UMLKSK CUI: C0002986
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0002986Fabry Disease0self